guidebook. - Fanconi Anemia Research Fund

Chapter 1: Clinical Management Checklist
15
• Endocrine evaluation, including thyroid function,
serum glucose and/or glucose tolerance,
lipid assessment, and bone mineral density.
• Ear and hearing examination to assess for hearing
loss and/or structural abnormalities of the
ears.
• Eye examination by an ophthalmologist, if clinically
indicated.
• Examination for head and neck cancer by an
otolaryngologist (ear, nose, and throat specialist),
beginning at age ten.
• Gynecological examination (see page 22).
• Examinations by other specialists, depending on
the individual needs of the patient.
Complementation Group Assignment
• Identification of the complementation group can
guide medical management of the FA patient
and help the family determine cancer risk in
patients and in carriers. It can also guide family
planning efforts and may be important for prospective
gene therapy trials. Complementation
group typing is available through FA-specialized
laboratories.
• Genes not currently identifiable by complementation
group testing include FANCD1/BRCA2,
D2, I, M, and N. Mutation analysis is necessary
to classify individuals into one of these five
groups.
Mutation Analysis
• Mutation analysis determines and/or confirms
the initial complementation group result and is
also used to perform other genetic tests, such
as carrier testing or prenatal testing. Mutation